Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia

Roberto Negro, Stefano Zoccolella, Rosa Dell'Aglio, Angela Amati, Lucia Artuso, Luigi Bisceglia, Vito Lavolpe, Sergio Papa, Luigi Serlenga, Vittoria Petruzzella

Research output: Contribution to journalArticlepeer-review

Abstract

Nuclear genes affecting mitochondrial genome stability were screened in an Italian family presenting with autosomal dominant progressive external ophthalmoplegia (adPEO) associated with multiple mitochondrial DNA (mtDNA) deletions. We report on a heterozygous c.907C>T (p.R303W) mutation found in the N-terminal domain of the human mitochondrial DNA helicase, Twinkle protein, in six members of a family, in which two individuals manifested late-onset PEO and morphological and molecular signs of mitochondrial dysfunction along with two carriers who are presently free of disease manifestation. We also investigated if the p.R303W mutation in PEO1 gene affected the relative copy number of mitochondrial DNA genomes.

Original languageEnglish
Pages (from-to)423-426
Number of pages4
JournalNeuromuscular Disorders
Volume19
Issue number6
DOIs
Publication statusPublished - Jun 2009

Keywords

  • mtDNA copy number
  • mtDNA multiple deletions
  • Progressive external ophthalmoplegia

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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